Zobrazeno 1 - 10
of 215
pro vyhledávání: '"J. Overhauser"'
Publikováno v:
Arthritis & Rheumatism. 42:2139-2144
Objective To map the gene for human cartilage intermediate layer protein (CILP) in order to assess its involvement in some familial forms of calcium pyrophosphate dihydrate (CPPD) deposition disease. Methods A radiation hybrid panel was analyzed for
Publikováno v:
Psychiatric Genetics. 8:53-56
We report a case of a women with psychiatric illness that includes bipolar disorder who has a karyotype of 46,XX,t(14;18)(q11.2;q22.1). The region on chromosome 18 that is involved in the translocation has been implicated in other families through li
Publikováno v:
Genome Research. 7:118-127
Chromosome-specific cDNA libraries are new tools for the isolation of genes from specific genomic regions. We have used two YACs than span the approximately 2-Mb cri-du-chat critical region (CDCCR) of chromosome 5p to directly screen a chromosome 5-s
Autor:
A. Botta, K. Rojas, P. Zaragoza, X.-X. Zhang, M. Pritchard, B.P. Chowdhary, J.P. Park, J.L. Kissil, A. Rocchi, T.K. Watanabe, T. Siddque, N.P. Mertvetsov, W. Engel, A.A. Bosma, C. Rodellar, A. Arai, F. Shimizu, B. Hoebee, K.N. Sastry, R. Houlgatte, P.A. Voûte, N. Guo, U.W. Kenkare, J.-J. Cassiman, J. Guimera, W.R. Harrison, M.Z. Limongi, G. Mirza, A. Fratello, C.H. van Os, T. Ikeuchi, M. Chaffanet, T. Goldammer, M. Mannens, D. Grady, D. Wells, V. Romano, O. Miura, As. Ricco, M. Schwerin, M. Gersh, M.L. Filipenko, S.A. Wilcox, H. Levéziel, S.J. O’Brien, G.F.M. Merkx, C.C. Morton, G. Hardiman, R. Marzella, S. Hirosawa, T.J. Robinson, K.B.M. Reid, C. Elduque, A.S. Hewson, P.M.T. Deen, J.A. Squire, J.A.M. Graves, L. Vatteroni, E. Viegas-Péquignot, K. Yamamoto, M. Carter, L. Frönicke, N.V. Vorobieva, J. Overhauser, N. Ceratto, N.A. de Haan, M. Suzuki, T. Kozaki, M.S. Aly, B. Redeker, S. van Beersum, P.M. Borodin, F.F.B. Elder, A. Kimchi, A.S. Graphodatsky, B. Beatty, J.A. McMahon, M. de Meulemeester, J.B. Searle, I.V. Koroleva, W.Y. Hung, Y. Kuga, M. Jeanpierre, N. Sakuragawa, S. Feo, C. Auffray, M. Ogawa, M. Rocchi, M.P. Hande, C.K. Ullrich, J. Widmer, A. Ponce de León, F.O. Fackelmayer, S. Weremowicz, A. Pizzuti, K. Ohsugi, S. Okuno, R.J.M. Bindels, L.D. Matyakhina, A.P. McMahon, R. Leube, Y. Yang, A. Pandita, M. Lachtermacher, A. Tanzariello, B. Dallapiccola, M.A. Ferguson-Smith, A. Musio, A.F. Davies, D. Patterson, N. Lynch, Y. Nakamura, G. Rainaldi, M. Steenman, S.-T. Lee, H. Hayes, P.C.M. O’Brien, G.G. Karpova, C.H.M. Mellink, E. Jenkins, J.H. Xia, M. Schepens, A.T. Natarajan, B.-L. Lim, R. Meneveri, W.G. Nash, J. Kissing, M. Stacey, T. Fujiwara, M. Schmid, L.A. Witters, C. Zijlstra, L. Viggiano, F. Yang, M. Nagata, W. Bie, H. Scherthan, H. Murer, B. Ghebrehiwet, A. Westerveld, S. Kurata, H.N. Seuánez, M. Lovett, K.-H. Lee, R. Godbout, H.G. Brunner, J.M. Varley, P. Thygesen, R. Slater, S. Ishikawa, S.D. Pack, E. Takahashi, O.V. Cheryaukene, C. Bendixen, F. Ugolini, M. Matsumoto, R.M. Brunner, A. Risch, D. Birnbaum, Y. Takei, C.H. Fan, L.A. James, E.M. Ladenburger, P. Laurent, G. von Beust, T.K. Mohandas, H. Kobayashi, E. Burt, K. Wiesmeijer, M. Kai, A. Baldini, P. Eydoux, F.C. Canavez, F. Pelliccia, A. Geurts van Kessel, Déborah Bourc'his, S.-H. Park, S. Sebastian, C. Dobkin, R. Stanyon, R.A. Kastelein, L. Langbein, R. Toder, K. Okui, O.L. Serov, N. Matas, M.R. Koehler, R. Moyzis, J.F. Bazan, M.A. van Kuijck, A. Simons, P. Miniou, Y. Yokoyama, D. Molina Gomes, L. Xu, M.A.M. Moreira, H. Kim, E. Sim, J. Ragoussis, F. Saito-Ohara, M. Kool, N. Miyasaka, T. Katagiri, P. Bosco, X. Estivill, N. Archidiacono, G. Novelli, R. Knippers, P. Maccarone, J. Wienberg, M.-J. Pébusque, H.S. Tenenhouse, M. Nadal, W. Schwaeble, H. Hameister, H. van Bokhoven, T. Takahashi, E.I.B. Peerschke, V. Jurecic, X.-L. Yao, Y. Hey, P. Riegman, S.N. Malchenko, H.X. Deng, A.B. Spurdle, N. Hoggard
Publikováno v:
Cytogenetic and Genome Research. 77:I-IV
Publikováno v:
Journal of Medical Genetics. 33:240-243
We report on a patient with a deletion of 18q23. At both 2 and 4 years of age, she displayed few of the facial features or other clinical features associated with the 18q- syndrome. Fluorescent in situ hybridisation and microsatellite marker and RFLP
Autor:
Susan L. Naylor, R. Chinn, J. Overhauser, Andrea Ballabio, B.L. Dubois, B. E. Reus, G. Mendgen, Robin J. Leach, S. Hayes, L. Schantz, Tracey B. Lewis, H. Drabkin
Publikováno v:
Genomics. 24:549-556
Chromosome 3 comprises 7% of the genome and contains at least 210 Mb of DNA. To expedite the analysis of this chromosome, we have assembled a somatic cell hybrid mapping panel that subdivides human chromosome 3 into 23 intervals using a total of 19 h
Autor:
J, Overhauser
Publikováno v:
Methods in molecular biology (Clifton, N.J.). 12
For the analysis of large DNA fragments using pulsed-field gel electrophoresis (PFGE), it is necessary to first embed the cells in agarose to prevent shearing of the DNA during protein extraction and restriction enzyme digestion. The speed and effici
Autor:
R C, Marinescu, P C, Mainardi, M R, Collins, M, Kouahou, G, Coucourde, G, Pastore, J, Eaton-Evans, J, Overhauser
Publikováno v:
American journal of medical genetics. 94(2)
Low birth weight and slow growth are frequently observed in the patients with cri-du-chat syndrome. To provide a growth reference standard for children with cri-du-chat syndrome, syndrome-specific growth charts have been developed from a combination
Publikováno v:
Clinical genetics. 56(4)
Most patients with cri-du-chat syndrome have a de novo deletion of the short arm of chromosome 5 (5p). In order to perform extensive phenotype-genotype correlation studies, a relatively easy method for the precise determination of the extent of a pat
Publikováno v:
Arthritis and rheumatism. 42(10)
To map the gene for human cartilage intermediate layer protein (CILP) in order to assess its involvement in some familial forms of calcium pyrophosphate dihydrate (CPPD) deposition disease.A radiation hybrid panel was analyzed for chromosomal assignm